view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSGALNACT1_chr8_19399161_19762277 | 19667004 | AAAGAAAG others(89): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG01517.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0226 others(2): Show |
5 | 201 | 0.0249 | -96 | c.-39 others(117): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795863 | TACAGATA others(89): Show |
T | intron_variant | MODIFIER | NA18979.hp2 NA19043.hp1 NA19074.hp2 |
a0001 | a0001c0080a0001c0090a0001c0093 | a0001c0080t0041a0001c0090t0001a0001c0093t0009 | a0001c0080t0041g0025 a0001c0090t0001g0027 a0001c0093t0009g0007 |
3 | 125 | 0.0240 | -96 | c.819 others(115): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4486134 | TATACATA others(89): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0070 | a0002c0070t0046 | a0002c0070t0046g0092 | 1 | 124 | 0.0081 | -96 | c.303 others(115): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | |||||||
CSNK1D_chr17_82237667_82278700 | 82254678 | GCCGGAGC others(89): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 318 | 0.0031 | -96 | c.336 others(111): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79694149 | CGGGAGTG others(89): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02615.hp2 HG02886.hp2 others(1): Show |
a0001a0011 | a0001c0001a0001c0018a0011c0032 | a0001c0001t0001a0001c0018t0001a0011c0032t0001 | a0001c0001t0001g0087 a0001c0018t0001g0089 a0001c0018t0001g0090 others(1): Show |
4 | 376 | 0.0106 | -96 | c.315 others(112): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79694184 | TGCTGAGT others(89): Show |
T | intron_variant | MODIFIER | HG01243.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0101 a0001c0001t0008g0105 |
2 | 375 | 0.0053 | -96 | c.315 others(112): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79694218 | AGGGTGGT others(89): Show |
A | intron_variant | MODIFIER | HG02132.hp1 HG04228.hp1 NA18955.hp2 others(3): Show |
a0001 | a0001c0003a0001c0013 | a0001c0003t0001a0001c0013t0015 | a0001c0003t0001g0002 a0001c0003t0001g0029 a0001c0003t0001g0073 others(2): Show |
6 | 372 | 0.0161 | -96 | c.315 others(111): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79694407 | CGGTGGTC others(89): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0013a0001c0042 | a0001c0001t0017a0001c0013t0015a0001c0042t0001 | a0001c0001t0017g0206 a0001c0013t0015g0196 a0001c0042t0001g0099 |
3 | 368 | 0.0082 | -96 | c.315 others(111): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CYBC1_chr17_82437586_82455752 | 82443764 | GGCCACGG others(89): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0031 a0001c0001t0012g0073 |
3 | 269 | 0.0112 | -96 | c.*14 others(105): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 7/7 | 144 | chr17 | TogoVar | ||||||
CYBRD1_chr2_171517474_171563129 | 171558378 | TAAATATC others(89): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01891.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 a0001c0001t0004g0246 a0001c0001t0004g0247 |
4 | 391 | 0.0102 | -96 | c.*35 others(107): Show |
CYBRD1 | ENSG00000071967.12 | transcript | ENST00000321348.9 | protein_coding | 250 | chr2 | TogoVar | |||||||
CYP4F12_chr19_15668087_15702174 | 15673951 | CCACTCAC others(89): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00673.hp1 others(27): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0019others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0019t0001others(2): Show | a0001c0001t0001g0144 a0002c0002t0001g0004 a0002c0002t0001g0017 others(12): Show |
30 | 337 | 0.0890 | -96 | c.198 others(111): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYTH4_chr22_37277508_37320341 | 37319450 | CAGCATTC others(89): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0077 | 1 | 402 | 0.0025 | -96 | c.*59 others(107): Show |
CYTH4 | ENSG00000100055.21 | transcript | ENST00000248901.11 | protein_coding | 4110 | chr22 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 640003 | CGCCTCCC others(89): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG01074.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0055 others(27): Show |
30 | 344 | 0.0872 | -96 | c.*44 others(107): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 4229 | chr11 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60668087 | ATATATAT others(89): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 286 | 0.0035 | -96 | c.314 others(115): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137448619 | AAGGAAGG others(89): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02145.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0032 a0001c0001t0004g0023 a0001c0001t0007g0008 others(21): Show |
24 | 92 | 0.2609 | -96 | c.273 others(115): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 27/32 | chr7 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 346564 | CATAGTTC others(89): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG01981.hp1 HG02004.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0002 | a0001c0006t0001g0034 a0001c0006t0002g0033 a0001c0006t0002g0035 others(1): Show |
4 | 88 | 0.0455 | -96 | c.323 others(115): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 26/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516365 | AGGGGAAG others(89): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076 | 1 | 88 | 0.0114 | -96 | c.86- others(113): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DKK3_chr11_11958036_12013626 | 11972788 | GTTAAAGG others(89): Show |
G | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 414 | 0.0024 | -96 | c.436 others(113): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 807484 | CGTTCTCT others(89): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0002 | 1 | 40 | 0.0250 | -96 | c.18+ others(113): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1013852 | CGATGCCT others(89): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0013 | 1 | 40 | 0.0250 | -96 | c.73+ others(115): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452393 | GGGAAGGG others(89): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0011 | a0011c0046 | a0011c0046t0001 | a0011c0046t0001g0053 | 1 | 109 | 0.0092 | -96 | c.360 others(115): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DNAAF6_chrX_107201611_107249247 | 107204721 | TTTATTTA others(89): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01975.hp1 HG02300.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0018 others(3): Show |
11 | 278 | 0.0396 | -96 | c.-19 others(107): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 1889 | chrX | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225335666 | TGTGCATA others(89): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03195.hp2 |
a0028 | a0028c0030 | a0028c0030t0001 | a0028c0030t0001g0123 a0028c0030t0001g0124 |
2 | 238 | 0.0084 | -96 | c.100 others(117): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | chr1 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11694638 | CTTGCTTT others(89): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02735.hp1 |
a0005a0050 | a0005c0055a0050c0130 | a0005c0055t0001a0050c0130t0001 | a0005c0055t0001g0102 a0050c0130t0001g0113 |
2 | 142 | 0.0141 | -96 | c.487 others(113): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 168619 | GTTCTTGA others(89): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 338 | 0.0030 | -96 | c.453 others(113): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 50980619 | ATTGATTC others(89): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 210 | 0.0048 | -96 | c.315 others(115): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK5_chr8_25179689_25420711 | 25216561 | CATACAAT others(89): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG02717.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0004t0031a0002c0007t0062 | a0001c0001t0001g0094 a0001c0004t0031g0141 a0002c0007t0062g0024 |
3 | 119 | 0.0252 | -96 | c.44- others(113): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOCK5_chr8_25179689_25420711 | 25216625 | CATACAAT others(89): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03209.hp1 HG03579.hp2 |
a0001 | a0001c0004a0001c0018a0001c0034 | a0001c0004t0013a0001c0018t0054a0001c0034t0045 | a0001c0004t0013g0185 a0001c0018t0054g0199 a0001c0034t0045g0173 |
3 | 70 | 0.0429 | -96 | c.44- others(113): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOCK6_chr19_11194295_11267524 | 11209486 | GTCCCTTC others(89): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0020 | a0020c0024 | a0020c0024t0001 | a0020c0024t0001g0005 | 1 | 312 | 0.0032 | -96 | c.475 others(113): Show |
DOCK6 | ENSG00000130158.14 | transcript | ENST00000294618.12 | protein_coding | 37/47 | chr19 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400968 | CCTCCACC others(89): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0080 | a0002c0080t0002 | a0002c0080t0002g0053 | 1 | 248 | 0.0040 | -96 | c.323 others(115): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403880 | CTCTCTCT others(89): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG02965.hp2 |
a0002a0042a0045 | a0002c0122a0042c0036a0045c0044 | a0002c0122t0002a0042c0036t0003a0045c0044t0003 | a0002c0122t0002g0232 a0042c0036t0003g0236 a0045c0044t0003g0004 |
3 | 253 | 0.0119 | -96 | c.323 others(114): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403882 | CTCTCTCT others(89): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0047 | a0047c0047 | a0047c0047t0008 | a0047c0047t0008g0012 | 1 | 253 | 0.0040 | -96 | c.323 others(114): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403884 | CTCTCTCT others(89): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0061 | a0061c0123 | a0061c0123t0001 | a0061c0123t0001g0240 | 1 | 254 | 0.0039 | -96 | c.323 others(114): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403886 | CTCTCTCT others(89): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0114 | a0002c0114t0001 | a0002c0114t0001g0015 | 1 | 249 | 0.0040 | -96 | c.323 others(114): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403892 | CTATATAT others(89): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 202 | 0.0050 | -96 | c.323 others(114): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 403898 | ATATATAT others(89): Show |
A | intron_variant | MODIFIER | HG02809.hp1 NA18961.hp2 |
a0002a0012 | a0002c0112a0012c0092 | a0002c0112t0001a0012c0092t0001 | a0002c0112t0001g0224 a0012c0092t0001g0076 |
2 | 165 | 0.0121 | -96 | c.323 others(114): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DR1_chr1_93340907_93374493 | 93366947 | AGCCATGA others(89): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18963.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0002 a0001c0001t0024g0105 |
2 | 358 | 0.0056 | -96 | c.*63 others(107): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 3/3 | 6309 | chr1 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 640003 | CGCCTCCC others(89): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00597.hp1 others(34): Show |
a0003a0011a0013 | a0003c0004a0003c0031a0011c0014others(1): Show | a0003c0004t0001a0003c0031t0001a0011c0014t0001others(1): Show | a0003c0004t0001g0001 a0003c0004t0001g0002 a0003c0004t0001g0003 others(14): Show |
37 | 420 | 0.0881 | -96 | c.807 others(103): Show |
p.Pro others(13): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 843/1399 | 807/1260 | 269/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
EHD1_chr11_64846642_64883621 | 64855856 | TTCAACCC others(89): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(164): Show |
326 | 331 | 0.9849 | -96 | c.916 others(111): Show |
EHD1 | ENSG00000110047.18 | transcript | ENST00000320631.8 | protein_coding | 3/4 | chr11 | TogoVar | |||||||
EIF4A3_chr17_80129369_80152128 | 80146992 | CGCCGCTG others(89): Show |
C | 5_prime_UTR_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0202 | 1 | 403 | 0.0025 | -96 | c.-12 others(104): Show |
EIF4A3 | ENSG00000141543.12 | transcript | ENST00000649764.2 | protein_coding | 1/12 | 32 | chr17 | TogoVar | ||||||
ELL2_chr5_95880098_95966851 | 95927424 | TACACACA others(89): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01255.hp2 HG03239.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0022 | a0002c0002t0001g0095 a0002c0002t0001g0251 a0002c0002t0001g0287 others(1): Show |
4 | 299 | 0.0134 | -96 | c.196 others(113): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927428 | CACACACG others(89): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 a0001c0001t0003g0157 |
2 | 312 | 0.0064 | -96 | c.196 others(113): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796810 | CATTATAT others(89): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 a0001c0001t0003g0069 |
2 | 158 | 0.0127 | -96 | c.-44 others(107): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3858 | chr14 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666927 | TGATGGTG others(89): Show |
T | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0277 | 1 | 389 | 0.0026 | -96 | c.*72 others(107): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3390 | chr18 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914742 | TGTCTCTC others(89): Show |
T | intron_variant | MODIFIER | HG03688.hp1 NA19007.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0094 a0001c0002t0002g0132 |
2 | 326 | 0.0061 | -96 | c.-13 others(113): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108747160 | TATATTAT others(89): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 376 | 0.0027 | -96 | c.108 others(113): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128584980 | AAGAAAGA others(89): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01070.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0108 a0001c0001t0001g0164 a0001c0001t0004g0021 others(8): Show |
11 | 284 | 0.0387 | -96 | c.-15 others(113): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585019 | AGAAGAAA others(89): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 236 | 0.0042 | -96 | c.-15 others(113): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585028 | AAAGAAAA others(89): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 284 | 0.0035 | -96 | c.-15 others(113): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585040 | GAAAGAAA others(89): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0220 | 1 | 277 | 0.0036 | -96 | c.-15 others(113): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar |